UC San Diego researchers found that the chromosomal microdeletion 22q11.2del significantly increases the risk of spina bifida, identifying the CRKL gene as a key factor. They also highlighted the role of folic acid in reducing the risk and severity of the disorder.

Researchers at the University of California San Diego School of Medicine have conducted an investigation that provides new insights into the causes of spina bifida, the most common structural disorder of the human nervous system. Work of the group, led by Keng Ioi Vong, Ph.D.

, and Sangmoon Lee, M.D. Ph.

D., both from the laboratory of Joseph G. Gleeson, M.

D., at the UC San Diego School of Medicine Department of Neurosciences and the Rady Children’s Institute for Genomic Medicine, reveals the first link between spina bifida and a common chromosomal microdeletion in humans. The study demonstrates that individuals carrying this chromosomal deletion —present in one of 2,500 live births — demonstrate a risk of spina bifida more than 10 times greater than the general public.

The study also underscores the potential role of a common food supplement in reducing the risk of spina bifida. The findings were recently published in the journal Science . The Role of Chromosomal Deletions Gleeson, Rady Professor in the Department of Neuroscience and director of neuroscience at Rady Children’s Institute for Genomic Medicine, is the senior author of the study.

He explained that spina bifida, also known as meningomyelocele, af.